Whitley J M, Flannery A M
Department of Surgery, Medical College of Georgia, Augusta 30912, USA.
Childs Nerv Syst. 1996 Apr;12(4):224-7. doi: 10.1007/BF00301256.
Proteus syndrome is a rare hamartomatous disorder involving macrodactyly, hemihypertrophy, and subcutaneous lymphangiomas; fewer than 25 cases have been reported worldwide. We report a case of a thoracic epidural lymphangiolipoma in a 5-year-old boy with Proteus syndrome. Computerized axial tomography (CT) of the thoracic spine revealed a left posterior mediastinal mass that extended into the spinal canal through adjacent neural foramina. No sign of spinal cord compression was observed despite the extensive volume of tumor within the spinal canal. Surgical debulking utilizing a T3-10 laminectomy resulted in gross total resection of the tumor. Microscopic examination of the surgical specimen revealed a lymphangiolipoma. No previous report of spinal cord involvement has been reported in this syndrome. A detailed discussion of the phenotypic features and probable mode of genetic transmission is included.
变形综合征是一种罕见的错构瘤性疾病，涉及巨指（趾）症、半侧肥大和皮下淋巴管瘤；全球报道的病例少于25例。我们报告一例5岁患有变形综合征的男孩发生胸椎硬膜外淋巴管脂肪瘤的病例。胸椎计算机断层扫描（CT）显示左后纵隔肿块，通过相邻神经孔延伸至椎管内。尽管椎管内肿瘤体积较大，但未观察到脊髓受压迹象。采用T3 - 10椎板切除术进行手术减瘤，实现了肿瘤的大体全切。手术标本的显微镜检查显示为淋巴管脂肪瘤。此前该综合征尚无脊髓受累的报道。本文还包括对其表型特征和可能的遗传传递方式的详细讨论。
